Canonical Allele Identifier: CA2549555865

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572135_73572136insGGC , CM000664.2:g.73572135_73572136insGGC	GRCh38
NC_000002.11:g.73799262_73799263insGGC , CM000664.1:g.73799262_73799263insGGC	GRCh37
NC_000002.10:g.73652770_73652771insGGC	NCBI36
NG_011690.1:g.191383_191384insGGC , LRG_741:g.191383_191384insGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10004-127_10004-126insGGC	ENSP00000507671.1:n.10004-127_10004-126insGGC
ENST00000682801.1:c.10004-127_10004-126insGGC	ENSP00000507862.1:n.10004-127_10004-126insGGC
ENST00000682859.1:c.10004-127_10004-126insGGC	ENSP00000508222.1:n.10004-127_10004-126insGGC
ENST00000683791.1:c.3090-127_3090-126insGGC
ENST00000684460.1:c.7285-127_7285-126insGGC
ENST00000684548.1:c.10004-127_10004-126insGGC	ENSP00000507421.1:n.10004-127_10004-126insGGC
ENST00000684590.1:c.4451-127_4451-126insGGC	ENSP00000507376.1:n.4451-127_4451-126insGGC
ENST00000684656.1:c.7330-127_7330-126insGGC
ENST00000613296.6:c.10385-127_10385-126insGGC MANE Select	ENSP00000482968.1:n.10385-127_10385-126insGGC
ENST00000651057.1:c.539-127_539-126insGGC	ENSP00000498504.1:n.539-127_539-126insGGC
ENST00000651434.1:c.1741-127_1741-126insGGC
ENST00000652487.1:c.1482-127_1482-126insGGC
ENST00000423048.5:c.3876-127_3876-126insGGC	ENSP00000399833.1:n.3876-127_3876-126insGGC
ENST00000484298.5:c.10259-127_10259-126insGGC	ENSP00000478155.1:n.10259-127_10259-126insGGC
ENST00000613296.4:c.10385-127_10385-126insGGC	ENSP00000482968.1:n.10385-127_10385-126insGGC
ENST00000614410.4:c.10385-127_10385-126insGGC	ENSP00000479094.1:n.10385-127_10385-126insGGC
ENST00000620466.4:n.4188-127_4188-126insGGC
NM_015120.4:c.10388-127_10388-126insGGC , LRG_741t1:c.10388-127_10388-126insGGC	NP_055935.4:n.10388-127_10388-126insGGC
NM_001378454.1:c.10385-127_10385-126insGGC MANE Select	NP_001365383.1:n.10385-127_10385-126insGGC